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Irish Child Health Database - Peer Reviewed Papers

Database Search

hereditary motor sensory neuropathy

Your search returns 2 documents

• 1.   Genetic conditons in the Irish Roma gypsy population

  The aim of this study was to examine genetic conditions in the Irish Roma gypsy population

  

  Abstract:

  Roma gypsy represent a new Irish ethnic minority population with a distinct cultural and racial heritage. There is a strong Roma tradition of consanguinity, which can increase the likelihood of having a child affected by an autosomal recessive disorder. We describe 6 patients from the Roma community who had presented with 4 different autosomal recessive conditions not previously seen in more...

  International Classification:

  Other - the Irish Roma gypsy population

  Categories:

  the Irish Roma gypsy population

  Geography:

  Republic of Ireland

  Irish Medical Journal, Vol: 98 Page: 3p 2005
  S. O'Connell; K. Butler; J. McMenamin; M. Waldron; A. J. Green

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• 2.   REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

  The aim of this study was to examine REEP1 mutation spectrum and genotype/phenotype correlation for hereditary spastic paraplegia type 31

  

  Abstract:

  Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients more...

  International Classification:

  Diseases of the nervous system - Cerebral palsy and other paralytic syndromes - spastic paraplegia

  Categories:

  hereditary spastic paraplegia type 31

  Geography:

  International

  Brain, Vol: 131 Page: 1078-1086 2008
  C. Beetz; R. Schule; T. Deconinck; K. N. Tran-Viet; H. Zhu; B. P. H. Kremer; S. G. M. Frints; W. A. G. Van Zelst-Stams; P. Byrne; S. Otto; A. O. H. Nygren; J. Baets; K. Smets; B. Ceulemans; B. Dan; N. Nagan; J. Kassubek; S. Klimpe; T. Klopstock; H. Stolze; H. J. M. Smeets; C. T. R. M. Schrander-Stumpel; M. Hutchinson; B. P. Van De Warrenburg; C. Braastad; T. Deufel; M. Pericak-Vance; L. Schols; P. De Jonghe; S. Zuchner

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